2a98

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[[Image:2a98.png|left|200px]]
 
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{{STRUCTURE_2a98| PDB=2a98 | SCENE= }}
{{STRUCTURE_2a98| PDB=2a98 | SCENE= }}
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===Crystal structure of the catalytic domain of human inositol 1,4,5-trisphosphate 3-kinase C===
===Crystal structure of the catalytic domain of human inositol 1,4,5-trisphosphate 3-kinase C===
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==Disease==
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[[http://www.uniprot.org/uniprot/IP3KC_HUMAN IP3KC_HUMAN]] Defects in ITPKC are a cause of Kawasaki disease (KWD) [MIM:[http://omim.org/entry/611775 611775]]; also known as mucocutaneous lymph node syndrome or infantile polyarteritis. Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. Coronary artery aneurysms develop in 15 to 25% of those left untreated, making Kawasaki disease the leading cause of acquired heart disease among children in developed countries.<ref>PMID:18157129</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/IP3KC_HUMAN IP3KC_HUMAN]] Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate (By similarity).
==About this Structure==
==About this Structure==
[[2a98]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2A98 OCA].
[[2a98]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2A98 OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Inositol-trisphosphate 3-kinase]]
[[Category: Inositol-trisphosphate 3-kinase]]

Revision as of 01:59, 25 March 2013

Template:STRUCTURE 2a98

Contents

Crystal structure of the catalytic domain of human inositol 1,4,5-trisphosphate 3-kinase C

Disease

[IP3KC_HUMAN] Defects in ITPKC are a cause of Kawasaki disease (KWD) [MIM:611775]; also known as mucocutaneous lymph node syndrome or infantile polyarteritis. Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. Coronary artery aneurysms develop in 15 to 25% of those left untreated, making Kawasaki disease the leading cause of acquired heart disease among children in developed countries.[1]

Function

[IP3KC_HUMAN] Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate (By similarity).

About this Structure

2a98 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23. PMID:18157129 doi:ng.2007.45

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